Canonical Allele Identifier: CA1048602016

Gene:

Linked Data

• dbSNP Id: rs2041752783
• gnomAD v3: 3-61428045-C-T
• gnomAD v4: 3-61428045-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428045C>T , CM000665.2:g.61428045C>T	GRCh38
NC_000003.11:g.61413719C>T , CM000665.1:g.61413719C>T	GRCh37
NC_000003.10:g.61388759C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-359G>A
XR_940893.1:n.164+469G>A
XR_001740725.1:n.202+469G>A
XR_940892.2:n.203-359G>A